JSON

celiac disease-epilepsy-cerebral calcification syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009187

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535496
  • Orphanet:1459
  • UMLS:C1856930
  • GARD:0002166
  • OMIM:226810
Subsets

ordo_disease

definition

Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.

exactMatch

http://identifiers.org/omim/226810

http://www.orpha.net/ORDO/Orphanet_1459

http://linkedlifedata.com/resource/umls/id/C1856930

http://identifiers.org/mesh/C535496

has exact synonym

CEC

celiac disease, epilepsy, and cerebral calcification syndrome

has related synonym

celiac disease epilepsy occipital calcifications

bilateral occipital calcifications with epilepsy

epilepsy occipital calcifications

epilepsy with bilateral occipital calcifications

familial unilateral and bilateral occipital calcifications and epilepsy

id

MONDO:0009187

imported from

http://purl.obolibrary.org/obo/mondo.owl

oboInOwl:hasDefinition

An association between epilepsy and celiac disease has been debated however has not been convincingly established in more careful studies. Celiac disease, epilepsy and occipital calcifications is a rare condition with the following characteristics: Mean age at onset is 6 years Bilateral cortical/subcortical parieto-occipital calcifications without brain atrophy Focal sensory visual seizures are common, these may evolve to focal to bilateral tonic-clonic seizures. Many cases respond to anti-seizure medications, however some require a gluten free diet for seizure control

Term relations